Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.

Cancer risk Lynch syndrome MLH1 MSH2 MSH6 Mortality PMS2 Prospective study Survival

Journal

EClinicalMedicine
ISSN: 2589-5370
Titre abrégé: EClinicalMedicine
Pays: England
ID NLM: 101733727

Informations de publication

Date de publication:
Apr 2023
Historique:
received: 12 10 2022
revised: 19 01 2023
accepted: 27 02 2023
pubmed: 14 5 2023
medline: 14 5 2023
entrez: 14 5 2023
Statut: epublish

Résumé

The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants ( The PLSD is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of Gynaecological cancers were more frequent than colorectal cancers in In We acknowledge funding from the Norwegian Cancer Society, contract 194751-2017.

Sections du résumé

Background UNASSIGNED
The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (
Methods UNASSIGNED
The PLSD is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of
Findings UNASSIGNED
Gynaecological cancers were more frequent than colorectal cancers in
Interpretation UNASSIGNED
In
Funding UNASSIGNED
We acknowledge funding from the Norwegian Cancer Society, contract 194751-2017.

Identifiants

pubmed: 37181409
doi: 10.1016/j.eclinm.2023.101909
pii: S2589-5370(23)00086-X
pmc: PMC10166779
doi:

Types de publication

Journal Article

Langues

eng

Pagination

101909

Informations de copyright

© 2023 The Author(s).

Déclaration de conflit d'intérêts

R.B. has received honoraria for lectures and advisory boards from AbbVie, Amgen, AstraZeneca, Bayer, BMS, Boehringer-Ingelheim, Illumina, Lilly, Merck-Serono, MSD, Novartis, Qiagen, Pfizer, Roche, and Targos MP Inc. R.B. is a Co-Founder and Scientific Advisor for Targos Mol. Pathology Inc. Kassel/Germany. T.T.S. is the CEO and co-owner of Healthfund Finland Oy and reports consultation fees from Boehringer Ingelheim Finland and Amgen. FB is supported by JANSSEN PHARMACEUTICALS (clinical trial for Familial Adenomatous polyposis). RH is supported by the 10.13039/501100002424Fujifilm Germany and Janssen-Pharmaceuticals. LK is consultant of Sandoz, Novartis and Abbott. GM reports consultancy fees from Johnson & Johnson.

Auteurs

Mev Dominguez-Valentin (M)

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379, Oslo, Norway.

Saskia Haupt (S)

Engineering Mathematics and Computing Lab (EMCL), Interdisciplinary Center for Scientific Computing (IWR), Heidelberg University, Heidelberg, Germany.
Data Mining and Uncertainty Quantification (DMQ), Heidelberg Institute for Theoretical Studies (HITS), Heidelberg, Germany.

Toni T Seppälä (TT)

Faculty of Medicine and Health Technology, Tampere University and Tays Cancer Center, Tampere University Hospital, Finland.
Department of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland.
Applied Tumor Genomics, Research Program Unit, University of Helsinki, Helsinki, Finland.

Julian R Sampson (JR)

Division of Cancer and Genetics, Institute of Medical Genetics, Cardiff University School of Medicine, Heath Park, Cardiff, CF14 4XN, UK.

Lone Sunde (L)

Department of Clinical Genetics, Aalborg University Hospital, 9000, Aalborg, Denmark.
Department of Biomedicine, Aarhus University, DK-8000, Aarhus, Denmark.

Inge Bernstein (I)

Department of Surgical Gastroenterology, Aalborg University Hospital, Aalborg University, 9100, Aalborg, Denmark.
Department of Clinical Medicine, Aalborg University Hospital, Aalborg University, 9100, Aalborg, Denmark.

Mark A Jenkins (MA)

Melbourne School of Population and Global Health, Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, 3010, Victoria, Australia.

Christoph Engel (C)

Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107, Leipzig, Germany.

Stefan Aretz (S)

Institute of Human Genetics, National Center for Hereditary Tumor Syndromes, Medical Faculty, University Hospital Bonn, University of Bonn, 53127, Bonn, Germany.

Maartje Nielsen (M)

Department of Clinical Genetics, Leids Universitair Medisch Centrum, 2300RC, Leiden, the Netherlands.

Gabriel Capella (G)

Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L; Hospitalet de Llobregat, 08908, Barcelona, Spain.

Francesc Balaguer (F)

Gastroenterology Department, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain.

Dafydd Gareth Evans (DG)

Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.

John Burn (J)

Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, NE1 7RU, UK.

Elke Holinski-Feder (E)

Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, 80336, Munich, Germany.
Center of Medical Genetics, 80335, Munich, Germany.

Lucio Bertario (L)

Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology, Fondazione IRCCS Instituto Nazionale dei Tumori, IRCCS, 20141, Milan, Italy.

Bernardo Bonanni (B)

Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, 20141, Milan, Italy.

Annika Lindblom (A)

Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76, Stockholm, Sweden.

Zohar Levi (Z)

Service High Risk GI Cancer Gastroenterology, Department Rabin Medical Center, Israel.

Finlay Macrae (F)

Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.
Department of Medicine, Melbourne University, Melbourne, Australia.

Ingrid Winship (I)

Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.
Department of Medicine, Melbourne University, Melbourne, Australia.
Department of Medicine, University of Melbourne, Melbourne, Australia.

John-Paul Plazzer (JP)

Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.
Department of Medicine, Melbourne University, Melbourne, Australia.

Rolf Sijmons (R)

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

Luigi Laghi (L)

Department of Medicine and Surgery, Laboratory of Molecular Gastroenterology, IRCCS Humanitas Research Hospital, University of Parma, Parma, Italy.

Adriana Della Valle (A)

Hospital Fuerzas Armadas, Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay.

Karl Heinimann (K)

Medical Genetics, Institute for Medical Genetics and Pathology, University Hospital Basel, Switzerland.

Tadeusz Dębniak (T)

Department of Genetics and Pathology, International Hereditary Cancer Center, ul. Unii Lubelskiej 1, 71-252, Szczecin, Poland.

Robert Fruscio (R)

Department of Medicine and Surgery, University of Milan Bicocca, A.O. San Gerardo, Clinic of Obstetrics and Gynecology, Via Pergolesi 33, Monza (MB), Italy.

Francisco Lopez-Koestner (F)

Clínica Universidad de los Andes, Chile.
Programa Cáncer Heredo Familiar, Santiago, Chile.

Karin Alvarez-Valenzuela (K)

Clínica Universidad de los Andes, Chile.
Programa Cáncer Heredo Familiar, Santiago, Chile.

Lior H Katz (LH)

Department of Gastroenterology, Hadassah, Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Israel.

Ido Laish (I)

Department of Gastroenterology, Hadassah, Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Israel.

Elez Vainer (E)

Hadassah Medical Center, Israel.

Carlos Vaccaro (C)

Hereditary Cancer Program (PROCANHE) Hospital Italiano de Buenos Aires, Argentina.

Dirce Maria Carraro (DM)

Clinical and Functional Genomics Group, A.C.Camargo Cancer Center, Sao Paulo, Brazil.

Kevin Monahan (K)

Lynch Syndrome & Family Cancer Clinic, St Mark's Hospital, Harrow, HA1 3UJ, London, UK.

Elizabeth Half (E)

Gastrointestinal Cancer Prevention Unit, Gastroenterology Department, Rambam Health Care Campus, Haifa, Israel.

Aine Stakelum (A)

St Vincent's University Hospital, Ireland.

Des Winter (D)

St Vincent's University Hospital, Ireland.

Rory Kennelly (R)

St Vincent's University Hospital, Ireland.

Nathan Gluck (N)

Department of Gastroenterology, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Israel.

Harsh Sheth (H)

Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Ahmedabad, 380015, India.

Naim Abu-Freha (N)

Soroka University Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Southern Israel, Israel.

Marc Greenblatt (M)

University of Vermont, Larner College of Medicine, Burlington, VT, 05405, USA.

Benedito Mauro Rossi (BM)

Hospital Sirio Libanes, Sao Paulo, Brazil.

Mabel Bohorquez (M)

University of Tolima, Tolima, Colombia.

Giulia Martina Cavestro (GM)

Gastroenterology and Gastrointestinal Endoscopy Unit, Division of Experimental Oncology, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 20132, Milan, Italy.

Leonardo S Lino-Silva (LS)

Surgical Pathology, Instituto Nacional de Cancerologia, Mexico City, Mexico.

Karoline Horisberger (K)

Department of Visceral and Transplantation Surgery, University Hospital of Zurich, Switzerland.
Depart-ment of Surgery, Universitätsmedizin Mainz, Germany.

Maria Grazia Tibiletti (MG)

Ospedale di Circolo ASST Settelaghi, Centro di Ricerca tumori eredo-familiari, Università dell'Insubria, Varese, Italy.

Ivana do Nascimento (ID)

Universidade Federal de Bahia, Bahia, Brazil.

Huw Thomas (H)

St Mark's Hospital, Department of Surgery and Cancer, Imperial College London, London, UK.

Norma Teresa Rossi (NT)

Fundación para el Progreso de la Medicina" y "Sanatorio Allende", Córdoba, Argentina.

Leandro Apolinário da Silva (L)

Hospital Universitário Oswaldo Cruz, Universidade de Pernambuco, Recife, Brazil.
SEQUIPE, Recife, Brazil.

Attila Zaránd (A)

1st Department of Surgery, Semmelweis University, Hungary.

Juan Ruiz-Bañobre (J)

Department of Medical Oncology, University Clinical Hospital of Santiago de Compostela (SERGAS); Translational Medical Oncology Group (Oncomet), Health Research Institute of Santiago de Compostela (IDIS); Genomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CiMUS), University of Santiago de Compostela (USC), 15706, Santiago de Compostela, Spain.
Centro de Investigación Biomédica en Red Cáncer (CIBERONC), 28029, Madrid, Spain.

Vincent Heuveline (V)

Engineering Mathematics and Computing Lab (EMCL), Interdisciplinary Center for Scientific Computing (IWR), Heidelberg University, Heidelberg, Germany.
Data Mining and Uncertainty Quantification (DMQ), Heidelberg Institute for Theoretical Studies (HITS), Heidelberg, Germany.

Jukka-Pekka Mecklin (JP)

Faculty of Sport and Health Sciences, University of Jyväskylä, Jyväskylä, Finland.
Department of Surgery, Central Finland Health Care District, Jyväskylä, Finland.

Kirsi Pylvänäinen (K)

Department of Education and Science, Central Finland Health Care District, Jyväskylä, Finland.

Laura Renkonen-Sinisalo (L)

Department of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland.
Applied Tumor Genomics, Research Program Unit, University of Helsinki, Helsinki, Finland.

Anna Lepistö (A)

Department of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland.
Applied Tumor Genomics, Research Program Unit, University of Helsinki, Helsinki, Finland.

Päivi Peltomäki (P)

Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.

Christina Therkildsen (C)

The Danish HNPCC Register, Clinical Research Centre, Copenhagen University Hospital, Hvidovre, Denmark.

Mia Gebauer Madsen (MG)

Department of Urology, Aarhus University Hospital, Denmark.

Stefan Kobbelgaard Burgdorf (SK)

Department of Surgery and Transplantation, Rigshospitalet, Copenhagen University Hospital, Denmark.

John L Hopper (JL)

Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia.

Aung Ko Win (AK)

Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia.

Robert W Haile (RW)

Department of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University, USA.

Noralane Lindor (N)

Department of Health Science Research, Mayo Clinic Arizona, USA.

Steven Gallinger (S)

Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Canada.

Loïc Le Marchand (L)

University of Hawaii Cancer Center, USA.

Polly A Newcomb (PA)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109-1024, USA.

Jane Figueiredo (J)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109-1024, USA.

Daniel D Buchanan (DD)

Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, Victoria, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, Victoria, Australia.
Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Victoria, Australia.

Stephen N Thibodeau (SN)

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.

Magnus von Knebel Doeberitz (M)

Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
Cooperation Unit Applied Tumour Biology, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Markus Loeffler (M)

Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107, Leipzig, Germany.

Nils Rahner (N)

Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany.

Evelin Schröck (E)

National Center for Tumor Diseases (NCT), Partner Site Dresden, Dresden, Germany.
German Cancer Consortium (DKTK) Dresden and German Cancer Research Center (DKFZ) Heidelberg, Heidelberg, Germany.
Institute for Clinical Genetics, Faculty of Medicine and University Hospital Carl Gustav Carus, TU Dresden, Dresden, Germany.
Hereditary Cancer Syndrome Center Dresden, Faculty of Medicine and University Hospital Carl Gustav Carus, TU Dresden, Dresden, Germany.

Verena Steinke-Lange (V)

Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.
MGZ - Medical Genetics Center, Munich, Germany.

Wolff Schmiegel (W)

Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany.

Deepak Vangala (D)

Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany.

Claudia Perne (C)

Institute of Human Genetics, National Center for Hereditary Tumor Syndromes, Medical Faculty, University Hospital Bonn, University of Bonn, 53127, Bonn, Germany.

Robert Hüneburg (R)

Department of Internal Medicine, University Hospital Bonn, Bonn, Germany.

Silke Redler (S)

Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany.

Reinhard Büttner (R)

Institute of Pathology, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.

Jürgen Weitz (J)

Technische Universität Dresden, Dresden, Germany.

Marta Pineda (M)

Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L; Hospitalet de Llobregat, 08908, Barcelona, Spain.

Nuria Duenas (N)

Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L; Hospitalet de Llobregat, 08908, Barcelona, Spain.

Joan Brunet Vidal (JB)

Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L; Hospitalet de Llobregat, 08908, Barcelona, Spain.

Leticia Moreira (L)

Gastroenterology Department, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain.

Ariadna Sánchez (A)

Gastroenterology Department, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain.

Eivind Hovig (E)

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379, Oslo, Norway.
Centre for Bioinformatics, Department of Informatics, University of Oslo, Oslo, Norway.

Sigve Nakken (S)

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379, Oslo, Norway.
Centre for Bioinformatics, Department of Informatics, University of Oslo, Oslo, Norway.
Centre for Cancer Cell Reprogramming (CanCell), Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.

Kate Green (K)

Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.

Fiona Lalloo (F)

Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.

James Hill (J)

Department of Surgery, Central Manchester University Hospitals NHS Foundation Trust and University of Manchester, London, UK.

Emma Crosbie (E)

Gynaecological Oncology Research Group, Manchester University NHS Foundation Trust, Manchester, UK.
Division of Cancer Sciences, University of Manchester, Manchester, UK.

Miriam Mints (M)

Division of Obstetrics and Gyneacology, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden.

Yael Goldberg (Y)

Head Adult Genetic Service, Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.

Douglas Tjandra (D)

Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.
Department of Medicine, Melbourne University, Melbourne, Australia.

Sanne W Ten Broeke (SW)

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

Revital Kariv (R)

St Vincent's University Hospital, Ireland.

Guy Rosner (G)

St Vincent's University Hospital, Ireland.

Suresh H Advani (SH)

Sushrut Hospital and Research Centre, Mumbai, India.

Lidiya Thomas (L)

Sushrut Hospital and Research Centre, Mumbai, India.

Pankaj Shah (P)

Zydus Cancer Centre, Ahmedabad, India.

Mithun Shah (M)

Zydus Cancer Centre, Ahmedabad, India.

Florencia Neffa (F)

Department of Medicine and Surgery, Laboratory of Molecular Gastroenterology, IRCCS Humanitas Research Hospital, University of Parma, Parma, Italy.

Patricia Esperon (P)

Department of Medicine and Surgery, Laboratory of Molecular Gastroenterology, IRCCS Humanitas Research Hospital, University of Parma, Parma, Italy.

Walter Pavicic (W)

Instituto de Medicina Traslacional e Ingenieria Biomedica (IMTIB), CONICET IU, Hospital Italiano de Buenos Aires, Buenos Aires, 94, Argentina.

Giovana Tardin Torrezan (GT)

Hereditary Cancer Program (PROCANHE) Hospital Italiano de Buenos Aires, Argentina.

Thiago Bassaneze (T)

University of Vermont, Larner College of Medicine, Burlington, VT, 05405, USA.

Claudia Alejandra Martin (CA)

Hospital Privado Universiatrio de Córdoba, Cordoba, Argentina.

Gabriela Moslein (G)

Surgical Center for Hereditary Tumors, Ev. Bethesda Khs Duisburg, University Witten-Herdecke, Herdecke, Germany.

Pål Moller (P)

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379, Oslo, Norway.

Classifications MeSH